| Literature DB >> 15300670 |
Giovanni Abbruzzese1, Simona Pigullo, Angelo Schenone, Emilia Bellone, Roberta Marchese, Emilio Di Maria, Luana Benedetti, Paola Ciotti, Lucilla Nobbio, Vincenzo Bonifati, Franco Ajmar, Paola Mandich.
Abstract
Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which presented as neuropathy with liability to pressure palsies (HNPP) in the index case. RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system. Copyright 2004 Movement Disorder SocietyEntities:
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Year: 2004 PMID: 15300670 DOI: 10.1002/mds.20113
Source DB: PubMed Journal: Mov Disord ISSN: 0885-3185 Impact factor: 10.338